Results 171 to 180 of about 1,166 (222)
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Journal de genetique humaine, 1977
Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare.
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Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare.
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HEREDITARY OPTIC ATROPHY (LEBER'S DISEASE)
Archives of Ophthalmology, 1931When ophthalmology veers into the sphere of neurology, the complaint is "My sight is failing," as Cushing stated in his syndrome on atrophy of the primary nerve and intracranial neurosurgical conditions. And, as he likewise stated, it is often the sole complaint.
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Hereditary Dominant Optic Atrophy
1981Hereditary dominant optic atrophy occurred in 5 patients from two families. In the first family a tritan colour defect was manifested with normal red-green matches in the anomaloscope. In family 2 a tritan defect was recorded together with a red-green defect of deuteranopic type.
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Brain, 2023Valerie Desquiret-Dumas +2 more
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Therapeutic Effects of Idebenone on Leber Hereditary Optic Neuropathy
Current Eye Research, 2020Xiujuan Zhao, Lin Lu, Hui Yang
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